HGVS | Genome Assembly |
---|---|
NC_000012.12:g.8059745C>A , CM000674.2:g.8059745C>A | GRCh38 |
NC_000012.11:g.8212341C>A , CM000674.1:g.8212341C>A | GRCh37 |
NC_000012.10:g.8103608C>A | NCBI36 |
NG_050736.1:g.11727G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307637.5:c.441G>T MANE Select | ENSP00000302079.4:p.Trp147Cys | |
ENST00000307637.4:c.441G>T | ENSP00000302079.4:p.Trp147Cys | |
NM_004054.2:c.441G>T | NP_004045.1:p.Trp147Cys | |
NM_001326475.1:c.441G>T | NP_001313404.1:p.Trp147Cys | |
NM_001326477.1:c.441G>T | NP_001313406.1:p.Trp147Cys | |
NM_004054.3:c.441G>T | NP_004045.1:p.Trp147Cys | |
NM_001326475.2:c.441G>T | NP_001313404.1:p.Trp147Cys | |
NM_001326477.2:c.441G>T | NP_001313406.1:p.Trp147Cys | |
NM_004054.4:c.441G>T MANE Select | NP_004045.1:p.Trp147Cys |